Kavaklieva S, Yordanova I, Bruckner-Tuderman L, Has C
Royal Lancaster Infirmary, University Hospitals of Morecambe Bay NHS Foundation Trust, Lancaster, UK.
Case Rep Dermatol. 2013 Aug 7;5(2):210-4. doi: 10.1159/000354572. eCollection 2013.
The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult.
肢端皮肤剥脱综合征（APSS）是一种罕见的常染色体隐性疾病，临床特征为仅局限于手足的无症状性皮肤脱屑，组织学表现为颗粒层和角质层水平的分裂[Kiritsi等人：《皮肤病学研究杂志》2010年；130：1741 - 1746]。我们报告一名10个月大的男孩，自2个月大起就有仅局限于手足的皮肤剥脱病史。临床检查发现有红斑糜烂伴周边脱屑及松弛性水疱。DNA突变分析检测到两个杂合的TGM5突变：外显子1中的c.2T>C，p.M1T和外显子3中的c.337G>T，p.G113C，符合APSS的诊断。仅APSS的临床表现可能会令人困惑，且与单纯性大疱性表皮松解症极为相似，导致鉴别诊断困难。
